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Genetic factors in the etiology of sleep disorders
Dvořáková, Markéta ; Šolc, Roman (advisor) ; Červená, Kateřina (referee)
Sleep disorders are a group of disorders affecting a considerable part of proportion of the human population. Their aetiology is usually very complex and includes environmental and genetic factors. The nature of these disorders is often multifactorial. Sleep medicine and the field of synthesis of its findings with those of modern or classical genetics still offer quite a huge possibilities of research. However, despite many unresponsed questions, it is now possible to summarise the identified confirmed or suspected genes whose mutations are involved in the causes of these disorders. It is possible to estimate the heritability of certain disorders based on their multiple occurrence in families, presence in twins or prevalence in the population across different ethnics. This bachelor thesis focuses on genetic aspects in the etiology of sleep disorders, their heritability, the strength of the genetic component, and genetic links between some of the disorders.
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Characterization of the Hstx1 and Hstx2 hybrid sterility candidate genes
Kašíková, Lenka ; Jansa, Petr (advisor) ; Rothová, Olga (referee)
Speciation, the formation of new species, is an essential evolutionary process that causes species diversity on the Earth. At the beginning of this process is the separation of two populations by a reproductive barrier that prevents gene flow between these populations. One of the mechanisms, which enable reproductive isolation, is hybrid sterility (HS). It is a mechanism of postzygotic isolation that is described in a number of eukaryotes. The first discovered gene of hybrid sterility in vertebrates is the mice gene Hst1, later identified as gene Prdm9. By genetic and molecular analysis the locus on the X chromosome was determined, whose interaction with Prdm9 causes sterility or reduced fitness in male hybrids. This locus contains two genetic factors: Hstx1, causing an abnormal morphology of spermatozoa, and Hstx2, causing an arrest in spermatogenesis in pachytene spermatocytes and sterility. In my thesis I focus on the effect of deletion of a candidate hybrid sterility gene Fmr1nb on the X chromosome. The analysis of males B6N.Fmr1nbmut with deletion variants of the Fmr1nb gene showed that Fmr1nb is one of the factors influencing spermatogenesis. An increase in morphologic abnormalities in spermatozoa occurred in males with Fmr1nb gene deletion. This phenotype is identical with Hstx1. The effect...
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Cryptic Rearrangements of Human Chromosomes Associated with Schizophrenia
Jurišová, Lívia ; Šolc, Roman (advisor) ; Brynychová, Iva (referee)
Schizophrenia is a severe mental disorder with high heritability and complex genetics which interacts with environmental factors and leads to a wide range of symptoms. The emergence of modern cytogenetic and molecular genetic techniques has allowed uncovering one of the po- ssible causes - cryptic chromosomal rearrangements. The size of rearrangements, also known as microdeletions and microduplications, is under 3-5 Mb. Aberrations may affect multiple genes and their gene dosage. The research of cryptic rearrangements in association with schizophrenia began in 2008 with the identification of three pathogenic aberrations. Over time studies have identified more cryptic rearrangements and new studies supporting or not supporting their role in the disorder have been published. Research of the candidate genes and their possible interac- tions has also been conducted. It is hypothesized that schizophrenia is caused by pathologically changed brain connectivity, in which the changed gene dosage by cryptic rearrangements may play a role. The research is in its beginnings, and we can expect the identification of new rear- rangements. Further research may lead to a better understanding of the origin and symptoms of schizophrenia, and play a role in prenatal diagnostics and treatment. Key words: cryptic...
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Characterization of the Hstx1 and Hstx2 hybrid sterility candidate genes
Kašíková, Lenka ; Jansa, Petr (advisor) ; Rothová, Olga (referee)
Speciation, the formation of new species, is an essential evolutionary process that causes species diversity on the Earth. At the beginning of this process is the separation of two populations by a reproductive barrier that prevents gene flow between these populations. One of the mechanisms, which enable reproductive isolation, is hybrid sterility (HS). It is a mechanism of postzygotic isolation that is described in a number of eukaryotes. The first discovered gene of hybrid sterility in vertebrates is the mice gene Hst1, later identified as gene Prdm9. By genetic and molecular analysis the locus on the X chromosome was determined, whose interaction with Prdm9 causes sterility or reduced fitness in male hybrids. This locus contains two genetic factors: Hstx1, causing an abnormal morphology of spermatozoa, and Hstx2, causing an arrest in spermatogenesis in pachytene spermatocytes and sterility. In my thesis I focus on the effect of deletion of a candidate hybrid sterility gene Fmr1nb on the X chromosome. The analysis of males B6N.Fmr1nbmut with deletion variants of the Fmr1nb gene showed that Fmr1nb is one of the factors influencing spermatogenesis. An increase in morphologic abnormalities in spermatozoa occurred in males with Fmr1nb gene deletion. This phenotype is identical with Hstx1. The effect...
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Composition of selected fatty acids in milk fat of cows and goats
KALA, Robert
Milk fat is the recipient of numerous functions. It affects the biological, chemical, sensory and technological properties of milk. The Czech Republic is consumed and processed, especially cows, goats and ewes milk. The aim was to focus on the description of selected fatty acids in milk fat of dairy cows and goats because of their importance to human health and the factors that influence their composition. The results show that the content of short-chain fatty acids was compared to dairy cows higher in goat breeds. It was also found that the proportion of saturated fatty acids was influenced mainly breed and individuality, while the composition of unsaturated fatty acids was affected more nutrition and feeding. The work describes the biological factors such as breed, individuality, parity and stage of lactation, of the external factors described nutrition and feeding. Chapter biological factors mainly deals with the influence of genetics and contains a description of selected candidate genes affecting milk fat and fatty acids.
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